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    CLDN1 claudin 1 [ Homo sapiens ]

    Gene ID: 9076, updated on 19-May-2012

    Summary

    Official Symbol
    CLDN1provided by HGNC
    Official Full Name
    claudin 1provided by HGNC
    Primary source
    HGNC:2032
    Locus tag
    UNQ481/PRO944
    See related
    Ensembl:ENSG00000163347; HPRD:04760; MIM:603718; Vega:OTTHUMG00000156214
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CLD1; SEMP1; ILVASC
    Summary
    Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. Loss of function mutations result in neonatal ichthyosis-sclerosing cholangitis syndrome. [provided by RefSeq, Jul 2008]

    Genomic context

    Location :
    3q28-q29
    Sequence :
    Chromosome: 3; NC_000003.11 (190023490..190040235, complement)
    See CLDN1 in Epigenomics, MapViewer

    Chromosome 3 - NC_000003.11Genomic Context describing neighboring genes Neighboring gene leprecan-like 1 Neighboring gene methylthioadenosine phosphorylase pseudogene 2 Neighboring gene nicotinamide nucleotide adenylyltransferase 1 pseudogene Neighboring gene claudin 16 Neighboring gene transmembrane protein 207

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    Tat tat Exposure of brain microvascular endothelial cells to HIV-1 Tat results in a decrease of claudin-1, claudin-5, and zonula occludens-2 expression and cellular redistribution of claudin-5, suggesting potential disturbance of the blood-brain barrier by Tat PubMed

    Go to the HIV-1, Human Protein Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    O95832 O60885 BRD4    HPRD  PubMed  
    O95832 O95832 CLDN1    HPRD  PubMed  
    O95832 O15551 CLDN3    HPRD  PubMed  
    O95832 Q8NI35 INADL    HPRD  PubMed  
    O95832 P50281 MMP14    HPRD  PubMed  
    O95832 P08253 MMP2    HPRD  PubMed  
    O95832 O75970 MPDZ    HPRD  PubMed  
    O95832 Q07157 TJP1    HPRD  PubMed  
    O95832 Q9UDY2 TJP2    HPRD  PubMed  
    O95832 O95049 TJP3    HPRD  PubMed  
    O95832 Q96J92 WNK4    HPRD  PubMed  
    BioGRID:114533 BioGRID:107757 CLDN3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:114533 BioGRID:112977 CLDN5    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:114533 BioGRID:115502 INADL    BioGRID  PubMed Reconstituted Complex 
    BioGRID:114533 BioGRID:112937 TJP1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:114533 BioGRID:114809 TJP2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:114533 BioGRID:118025 TJP3    BioGRID  PubMed Reconstituted Complex 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • Cell adhesion molecules (CAMs), organism-specific biosystem (from KEGG)
      Cell adhesion molecules (CAMs), organism-specific biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
    • Cell adhesion molecules (CAMs), conserved biosystem (from KEGG)
      Cell adhesion molecules (CAMs), conserved biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
    • Cell junction organization, organism-specific biosystem (from REACTOME)
      Cell junction organization, organism-specific biosystem
      Cell junction organization
    • Cell-Cell communication, organism-specific biosystem (from REACTOME)
      Cell-Cell communication, organism-specific biosystemCell-to-Cell communication is crucial for multicellular organisms because it allows organisms to coordinate the activity of their cells. Some cell-to-cell communication requires direct cell-cell cont...
    • Cell-cell junction organization, organism-specific biosystem (from REACTOME)
      Cell-cell junction organization, organism-specific biosystemEpithelial cell-cell contacts consist of three major adhesion systems: adherens junctions (AJs), tight junctions (TJs), and desmosomes. These adhesion systems differ in their function and compositio...
    • Hepatitis C, organism-specific biosystem (from KEGG)
      Hepatitis C, organism-specific biosystemHepatitis C virus (HCV) is a major cause of chronic liver disease. The HCV employ several strategies to perturb host cell immunity. After invasion, HCV RNA genome functions directly as an mRNA in the...
    • Hepatitis C, conserved biosystem (from KEGG)
      Hepatitis C, conserved biosystemHepatitis C virus (HCV) is a major cause of chronic liver disease. The HCV employ several strategies to perturb host cell immunity. After invasion, HCV RNA genome functions directly as an mRNA in the...
    • Leukocyte transendothelial migration, organism-specific biosystem (from KEGG)
      Leukocyte transendothelial migration, organism-specific biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
    • Leukocyte transendothelial migration, conserved biosystem (from KEGG)
      Leukocyte transendothelial migration, conserved biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
    • Nectin adhesion pathway, organism-specific biosystem (from Pathway Interaction Database)
      Nectin adhesion pathway, organism-specific biosystem
      Nectin adhesion pathway
    • Pathogenic Escherichia coli infection, organism-specific biosystem (from KEGG)
      Pathogenic Escherichia coli infection, organism-specific biosystemEnteropathogenic E. coli (EPEC) and enterohemorrhagic E. coli (EHEC) are closely related pathogenic strains of Escherichia coli. The hallmark of EPEC/EHEC infections [DS:H00278 H00277] is induction o...
    • Pathogenic Escherichia coli infection, conserved biosystem (from KEGG)
      Pathogenic Escherichia coli infection, conserved biosystemEnteropathogenic E. coli (EPEC) and enterohemorrhagic E. coli (EHEC) are closely related pathogenic strains of Escherichia coli. The hallmark of EPEC/EHEC infections [DS:H00278 H00277] is induction o...
    • Tight junction, organism-specific biosystem (from KEGG)
      Tight junction, organism-specific biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...
    • Tight junction, conserved biosystem (from KEGG)
      Tight junction, conserved biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...
    • Tight junction interactions, organism-specific biosystem (from REACTOME)
      Tight junction interactions, organism-specific biosystemTight junctions (TJs) are the most apical component of the epithelial junctional complex forming a belt-like structure at the cellular junction. When visualized by freeze-fracture electron microscopy...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    identical protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    structural molecule activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    calcium-independent cell-cell adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    interspecies interaction between organisms IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    integral to membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    integral to plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    lateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    tight junction ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    claudin-1
    Names
    claudin-1
    senescence-associated epithelial membrane protein 1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_021418.1 RefSeqGene

      Range
      5001..21746
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_021101.4NP_066924.1  claudin-1

      Status: REVIEWED

      Source sequence(s)
      AC009520, AY358652, DA907275
      Consensus CDS
      CCDS3295.1
      UniProtKB/TrEMBL
      A5JSJ9
      UniProtKB/Swiss-Prot
      O95832
      Related
      ENSP00000295522, OTTHUMP00000209498, ENST00000295522, OTTHUMT00000343516
      Conserved Domains (1) summary
      cl15797
      Location:5169
      Blast Score: 306
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000003.11 Reference GRCh37.p5 Primary Assembly

      Range
      190023490..190040235, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000135.1 Alternate HuRef

      Range
      187423222..187439968, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC009520.16 (10689..27413) None
    genomic AF260403.1 AAK20945.1
    genomic AF260406.1 AAK20945.1
    genomic CH471052.2 EAW78107.1
      EAW78108.1
    mRNA AA484795.1 None
    mRNA AF086514.1 None
    mRNA AF101051.1 AAD16433.1
    mRNA AF114837.1 AAP97236.1
    mRNA AF115546.1 AAD22962.1
    mRNA AF134160.1 AAF61393.1
    mRNA AK296934.1 BAG59485.1
    mRNA AK312866.1 BAG35718.1
    mRNA AY358652.1 AAQ89015.1
    mRNA BC012471.1 AAH12471.1
    mRNA CR457138.1 CAG33419.1
    mRNA DA907275.1 None
    mRNA EF564137.1 ABQ42705.1
    other-genetic DQ891457.2 ABM82383.1
    other-genetic DQ896823.2 ABM87822.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95832.1 GenPept UniProtKB/Swiss-Prot:O95832
    Q7Z4X9 GenPept UniProtKB/TrEMBL:Q7Z4X9

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